CPA6 (carboxypeptidase A6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57094
Gene name Gene Name - the full gene name approved by the HGNC.
Carboxypeptidase A6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPA6
Synonyms (NCBI Gene) Gene synonyms aliases
CPAH, ETL5, FEB11
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ETL5
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme h
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs35993949 G>C Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs147067921 A>G,T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs199576384 T>C Pathogenic, uncertain-significance Non coding transcript variant, missense variant, coding sequence variant
rs376266840 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs773734224 G>A Uncertain-significance, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT022945 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0004181 Function Metallocarboxypeptidase activity IBA 21873635
GO:0004181 Function Metallocarboxypeptidase activity NAS 11836249
GO:0005615 Component Extracellular space IBA 21873635
GO:0006508 Process Proteolysis IBA 21873635
GO:0008270 Function Zinc ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609562 17245 ENSG00000165078
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N4T0
Protein name Carboxypeptidase A6 (EC 3.4.17.-)
Protein function May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preferen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02244 Propep_M14 43 → 118 Carboxypeptidase activation peptide Domain
PF00246 Peptidase_M14 145 → 424 Zinc carboxypeptidase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269|PubMed:21922598}.
Sequence
Sequence length 437
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Epilepsy Epilepsy, Epilepsy, Rolandic, EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)		 29358611, 21922598, 23105115
Febrile seizures Febrile Convulsions, FEBRILE SEIZURES, FAMILIAL, 11 rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304 21922598, 23105115
Seizure Tonic - clonic seizures rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Oligodendroglioma Oligodendroglioma GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 26648591
Colitis Ulcerative Inhibit 32570281
Diabetes Mellitus Type 2 Associate 29650774
Epilepsies Partial Associate 23105115
Epilepsy Associate 23105115, 25875328
Epilepsy Temporal Lobe Associate 23105115, 25875328
Myoclonic Epilepsy Juvenile Associate 25875328
Seizures Febrile Associate 23105115, 25875328